| Molecular modeling of ARF6 dysregulation caused by mutations in IQSEC2. | Molecular modeling of ARF6 dysregulation caused by mutations in IQSEC2.
Shokhen M, Walikonis R, Uversky VN, Allbeck A, Zezelic C, Feldman D, Levy NS, Levy AP. | 02/16/2024 |
| Ca2+-induced release of IQSEC2/BRAG1 autoinhibition under physiological and pathological conditions. | Ca2+-induced release of IQSEC2/BRAG1 autoinhibition under physiological and pathological conditions.
Bai G, Li H, Qin P, Guo Y, Yang W, Lian Y, Ye F, Chen J, Wu M, Huang R, Li J, Lu Y, Zhang M., Free PMC Article | 10/4/2023 |
| Molecular Insights into IQSEC2 Disease. | Molecular Insights into IQSEC2 Disease.
Levy NS, Borisov V, Lache O, Levy AP., Free PMC Article | 03/15/2023 |
| [Genotypes and phenotypes of IQSEC2 gene variants related epilepsy]. | [Genotypes and phenotypes of IQSEC2 gene variants related epilepsy].
Wang DH, Niu XY, Cheng MM, Chen Y, Yang Y, Yang XL, Yang ZX, Zhang YH. | 12/3/2022 |
| Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder. | Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
Baladron B, Mielu LM, López-Martín E, Barrero MJ, Lopez L, Alvarado JI, Monzón S, Varona S, Cuesta I, Cazorla R, Lara J, Iglesias G, Román E, Ros P, Gomez-Mariano G, Cubillo I, Miguel EH, Rivera D, Alonso J, Bermejo-Sánchez E, Posada M, Martínez-Delgado B., Free PMC Article | 09/3/2022 |
| IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain. | IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
Shoubridge C, Dudding-Byth T, Pasquier L, Goel H, Yap P, McConnell V., Free PMC Article | 06/18/2022 |
| Characterization of spontaneous seizures and EEG abnormalities in a mouse model of the human A350V IQSEC2 mutation and identification of a possible target for precision medicine based therapy. | Characterization of spontaneous seizures and EEG abnormalities in a mouse model of the human A350V IQSEC2 mutation and identification of a possible target for precision medicine based therapy.
Kane O, McCoy A, Jada R, Borisov V, Zag L, Zag A, Schragenheim-Rozales K, Shalgi R, Levy NS, Levy AP, Marsh ED. | 05/7/2022 |
| IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? | IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong J, Renieri A, Mari F. | 01/1/2022 |
| Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability. | Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability.
Karaman Mercan T, Altiok Clark O, Erkal O, Nur B, Mihci E, Karaman B, Senol AU, Berker Karauzum S. | 08/7/2021 |
| Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy. | Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.
Wayhelova M, Ryzí M, Oppelt J, Hladilkova E, Vallova V, Krskova L, Vilemova M, Polackova H, Gaillyova R, Kuglik P. | 06/19/2021 |
| Human and mouse data reaffirm IQSEC2 as another disease gene with an unexpected X-chromosome heterozygous female phenotype. Our Iqsec2 mouse model recapitulates the phenotypes observed in human patients despite the differences in the IQSEC2/Iqsec2 gene X-chromosome inactivation between the species. | Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females.
Jackson MR, Loring KE, Homan CC, Thai MH, Määttänen L, Arvio M, Jarvela I, Shaw M, Gardner A, Gecz J, Shoubridge C., Free PMC Article | 06/27/2020 |
| There is a growing number of female patients with de novo loss-of-function variants in IQSEC2 have a more severe phenotype than the heterozygous state would predict, particularly if IQSEC2 is thought to escape X-inactivation. | IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.
Shoubridge C, Harvey RJ, Dudding-Byth T. | 03/7/2020 |
| This article reviews neuronal IQSEC2 signaling with emphasis on those aspects likely to be involved in autism. [review] | IQSEC2-Associated Intellectual Disability and Autism.
Levy NS, Umanah GKE, Rogers EJ, Jada R, Lache O, Levy AP., Free PMC Article | 12/14/2019 |
| This study provides a comprehensive overview of IQSEC2-related encephalopathy in males and females, and suggests that an accurate dosage of IQSEC2 at the synapse is crucial during normal brain development | IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C., Free PMC Article | 06/23/2019 |
| IQSEC2 mutation is associated with syndromic intellectual disability. | The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
Helm BM, Powis Z, Prada CE, Casasbuenas-Alarcon OL, Balmakund T, Schaefer GB, Kahler SG, Kaylor J, Winter S, Zarate YA, Schrier Vergano SA. | 02/10/2018 |
| A truncating variant in IQSEC2 identified as a cause of fatal epileptic encephalopathy in two sisters. The IQSEC2 variant was identified in both surviving affected sisters but in neither parent. | Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
Ewans LJ, Field M, Zhu Y, Turner G, Leffler M, Dinger ME, Cowley MJ, Buckley MF, Scheffer IE, Jackson MR, Roscioli T, Shoubridge C., Free PMC Article | 09/16/2017 |
| A novel splicing variant in IQSEC2 co-segregates in a family with an X-linked form of intellectual disability. | A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
Madrigal I, Alvarez-Mora MI, Rosell J, Rodríguez-Revenga L, Karlberg O, Sauer S, Syvänen AC, Mila M., Free PMC Article | 07/29/2017 |
| In the asymptomatic mother, the mutated copy of the CDKL5 gene was inactivated in 90% of blood cells. We also identified a premature stop codon (p.Arg926*) in IQSEC2 in a patient with a Rett-like phenotype. Finally, exome sequencing enabled us to characterize a heterozygous de novo missense (p.Val408Ala) in KCNA2 in a girl with infantile-onset seizures variant of Rett syndrome (RTT) | Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.
Allou L, Julia S, Amsallem D, El Chehadeh S, Lambert L, Thevenon J, Duffourd Y, Saunier A, Bouquet P, Pere S, Moustaïne A, Ruaud L, Roth V, Jonveaux P, Philippe C. | 07/1/2017 |
| This study demonstrated that IQSEC2 pathogenic variants are an important cause of epilepsy in intellectually disabled individuals from both genders. It can frequently manifest as an early onset EE. | The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Geneviève D, Tran-Mau-Them F, Epstein O, Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T. | 06/24/2017 |
| identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1 | Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC, NISC Comparative Sequencing Program, Gahl WA, Huizing M, Smith ACM., Free PMC Article | 06/24/2017 |
| argue that it is clinically appropriate to test for IQSEC2 mutations in male and female patients with this symptom profile but without a known genetic mutation | IQSEC2 and X-linked syndromal intellectual disability.
Alexander-Bloch AF, McDougle CJ, Ullman Z, Sweetser DA., Free PMC Article | 01/14/2017 |
| the extent of the duplicated regions in each case encompassing a minimum of three known disease genes TSPYL2, KDM5C and IQSEC2, is reported. | Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.
Moey C, Hinze SJ, Brueton L, Morton J, McMullan DJ, Kamien B, Barnett CP, Brunetti-Pierri N, Nicholl J, Gecz J, Shoubridge C., Free PMC Article | 11/5/2016 |
| both Arf6 activation through GluN2B-BRAG1 during early development and the transition from BRAG1- to BRAG2-dependent Arf6 signaling induced by the GluN2 subunit switch are critical for the development of mature glutamatergic synapses. | Subunit-selective N-Methyl-d-aspartate (NMDA) Receptor Signaling through Brefeldin A-resistant Arf Guanine Nucleotide Exchange Factors BRAG1 and BRAG2 during Synapse Maturation.
Elagabani MN, Briševac D, Kintscher M, Pohle J, Köhr G, Schmitz D, Kornau HC., Free PMC Article | 11/5/2016 |
| This study demonstrates a dual role of BRAG1 in synaptic function. | Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression.
Brown JC, Petersen A, Zhong L, Himelright ML, Murphy JA, Walikonis RS, Gerges NZ., Free PMC Article | 09/3/2016 |
| Truncating mutations in IQSEC2 are responsible for syndromic severe intellectual disability in male patients. | Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Tran Mau-Them F, Willems M, Albrecht B, Sanchez E, Puechberty J, Endele S, Schneider A, Ruiz Pallares N, Missirian C, Rivier F, Girard M, Holder M, Manouvrier S, Touitou I, Lefort G, Sarda P, Moncla A, Drunat S, Wieczorek D, Genevieve D., Free PMC Article | 01/24/2015 |